Canonical Allele Identifier: CA945500019

Gene: GYS2

Linked Data

• gnomAD v3: 12-21562698-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAT
• gnomAD v4: 12-21562698-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562721_21562722insAAAAAATAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.21562721_21562722insAAAAAATAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000012.11:g.21715655_21715656insAAAAAATAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.21715655_21715656insAAAAAATAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000012.10:g.21606922_21606923insAAAAAATAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_016167.1:g.47149_47150insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000261195.2:n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTT...
ENST00000647960.1:c.*1064+219_*1064+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000497202.1:n.*1064+219_*1064+220insATTTTTTTTTTTTTTTATT...
ENST00000648372.1:n.989+219_989+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000261195.2:c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000261195.2:n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTT...
NM_021957.3:c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_068776.2:n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTT...
XM_005253352.1:c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005253409.1:n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTT...
XM_005253354.2:c.843+219_843+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005253411.1:n.843+219_843+220insATTTTTTTTTTTTTTTATTTTTTTTT...
XM_006719062.2:c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006719125.1:n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTT...
XM_006719063.2:c.831+219_831+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006719126.1:n.831+219_831+220insATTTTTTTTTTTTTTTATTTTTTTTT...
NM_021957.4:c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_068776.2:n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTT...
XM_006719063.3:c.831+219_831+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006719126.1:n.831+219_831+220insATTTTTTTTTTTTTTTATTTTTTTTT...
XM_017019245.2:c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016874734.1:n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTT...
XM_024448960.1:c.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024304728.1:n.1062+219_1062+220insATTTTTTTTTTTTTTTATTTTTTT...